Three novel RYR1 variants (Met2698Arg, Glu2724Lys, Leu2785Val) were identified in two Taiwanese families, which may predispose carriers to malignant hyperthermia.
May inform MH susceptibility evaluation; leaves open functional validation and broader penetrance.
BACKGROUND: Our primary objective was to detect malignant hyperthermia (MH)-susceptible persons and thereby prevent MH episodes. We identified variants in the ryanodine receptor isoform 1 using molecular pedigree analysis. METHODS: Nineteen exons covering major hotspots were chosen for the primary screening by polymerase chain reaction, denaturing high performance liquid chromatography, and confirmed by direct sequencing. RESULTS: Three novel variants involving amino acid changes were identified in two unrelated families as Met2698Arg, Glu2724Lys in exon 51 and Leu2785Val in exon 53. CONCLUSIONS: Three novel ryanodine receptor isoform 1 variants located either near or within the central domain might predispose carriers to MH.
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Chen et al. (2009) studied this question.
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